Genetic and prenatal diagnosis of a pedigree affected with type 3 von Willebrand disease.
- VernacularTitle:一个3型血管性血友病家系的基因及产前诊断
- Author:
Haiyan ZHU
1
;
Chunyan JI
Author Information
- Publication Type:Journal Article
- MeSH: Child, Preschool; Computational Biology; Female; High-Throughput Nucleotide Sequencing; Humans; Mutation; Pedigree; Prenatal Diagnosis; von Willebrand Disease, Type 3; diagnosis; genetics; von Willebrand Factor; genetics
- From: Chinese Journal of Medical Genetics 2017;34(5):654-657
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo provide genetic and prenatal analysis for a pedigree affected with type 3 von Willebrand disease.
METHODSNext generation sequencing and Sanger sequencing of the VWF gene were carried out for the pedigree. Suscepted pathogenic mutation was verified among other members of the pedigree and 100 healthy controls. Prenatal diagnosis was performed on amniotic cells derived from the fetus.
RESULTSA homozygous mutation c.7287+1G>A of the VWF gene was detected in the patient, which was predicted by bioinformatic analysis as a pathological splice site mutation. The parents and sister of the patient have all carried the same mutation. The mutation was not detected among the 100 healthy controls. Prenatal diagnosis confirmed that the fetus did not inherit the same mutation.
CONCLUSIONA novel mutation of the VWF gene was discovered, which correlated with the phenotype of the patient. Based on the discovery, prenatal diagnosis was provided for a fetus during subsequent pregnancy.
